epidermolysis bullosa/soud

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6 rezilta yo

The management of general and disease specific ENT problems in children with Epidermolysis Bullosa--a retrospective case note review.

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OBJECTIVE Epidermolysis Bullosa encompasses a group of inherited disorders characterized by excessive susceptibility of the skin and mucosa to separate from underlying tissues following mechanical trauma. Information in the literature and guidance on the management of Ear, Nose and Throat problems

External auditory canal stricture secondary to epidermolysis bullosa.

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A 24-year-old woman had epidermolysis bullosa simplex involving the external ear canal with resultant stricture that led to conductive hearing loss and repeated episodes of external otitis. Treatment consisted of scar excision, bony canal enlargement, and split-thickness skin grafting. A four-year

Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry.

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OBJECTIVE To accurately determine the frequency with which complications arise in the ears, noses, and throats of patients with inherited epidermolysis bullosa (EB) as well as the cumulative risk of tracheolaryngeal stenosis or stricture. METHODS Cross-sectional study (3,280 patients) with a nested,

Successful Placement of a BAHA Implant in a Patient With Epidermolysis Bullosa: A Case Report and Review of the Literature.

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BACKGROUND Epidermolysis bullosa (EB) is a spectrum of mechanobullous disorders characterized by blistering following minor trauma or traction to the skin. Hearing loss in this population is poorly described in the otolaryngology literature, and its treatment oftentimes results in external auditory

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

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The gene DST encodes for the large protein BPAG1 involved in hemidesmosomes. Its alternative splicing gives rise to tissue-enriched isoforms in brain, muscle, and skin. The few patients described so far with bi-allelic mutations in the DST gene have either a skin phenotype of epidermolysis bullosa

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

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BACKGROUND

Pathogenic PLOD3 variants cause a connective tissue disorder (CTD) that has been described rarely. We further characterise this CTD and propose a clinical diagnostic label to improve recognition and diagnosis of PLOD3-related

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